A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521119



Internal ID297419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63914834..63918778hg38UCSC Ensembl
chr20:62546187..62550131hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383945
hg193945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733707
Samples
Known GenesDNAJC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521119
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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